A Rare Soirée

Looking for a new fundraiser idea? Effie Parks, CTNNB1 Connect & Cure board member and mom to CTNNB1 son Ford, had a great – and successful – idea for this year's Rare Disease Day. She joined forces with her good friend and fellow Rare mom, Jill Hawkins, to host a “Rare Soiree,” an auction and cocktail…

Continue ReadingA Rare Soirée

Geisinger study supports genetic testing for individuals with cerebral palsy

Meta-analysis shows similar genetic diagnostic yield for cerebral palsy and other neurodevelopmental disorders. Thirteen studies published between 2013 and 2022, comprising 2,612 people, all related to CP and genetic testing, were evaluated by the Geisinger research team. Read more at https://www.eurekalert.org/news-releases/981810?fbclid=IwAR3DQVYNnL03XsTjFVPCfgnH-UtaT93oLIo_UE2YO1ck70IJRj3nZIts3tw.

Continue ReadingGeisinger study supports genetic testing for individuals with cerebral palsy

Simons Foundation Funds IPSC Cell Lines

The Simons Foundation has agreed to fund the development of 5 IPSC cell lines for preclinical drug testing. We are thankful for the generosity and support of this foundation which is committed to better understanding genetic neurodevelopmental conditions. ACCT is pushing full steam ahead to lay the necessary groundwork to appeal to the FDA for a…

Continue ReadingSimons Foundation Funds IPSC Cell Lines